Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

<p>Abstract</p> <p>Background</p> <p>Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approxi...

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Main Authors: Corti Stefania, Cereda Matteo, Lucchini Valeria, Fortunato Francesco, Tedeschi Silvana, Bordoni Andreina, Ciscato Patrizia, Sciacco Monica, Gandossini Sandra, Ghezzi Serena, Govoni Alessandra, D'Angelo Maria G, Del Bo Roberto, Magri Francesca, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P
Format: Article
Language:English
Published: BMC 2011-03-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/12/37

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http://www.biomedcentral.com/1471-2350/12/37

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